While we suspect this variant could be pathogenic, at this time
clinical significance of this variant is uncertain due to lack of
conclusive functional and genetic evidence.
Looking in literature about associations. We found that RTH-beta is
associated with an increased risk for autoimmune thyroid disease
[13]. Thus, the presence of antibodies to thyroid peroxidase and
thyroglobulin should not detract from the investigation of RTH-beta if
thyroid function tests suggest this possibility. Both antibodies were
found to be positive in our patient, so now we are closely monitoring
her for development of other autoimmune disease.